Linked Data
dbSNP Id:
rs146229292
ExAC:
15:22969345 C / T
gnomAD v2:
15-22969345-C-T
gnomAD v3:
15-22903723-G-A
gnomAD v4:
15-22903723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903723G>A , CM000677.2:g.22903723G>A | GRCh38 |
| NC_000015.9:g.22969345C>T , CM000677.1:g.22969345C>T | GRCh37 |
| NC_000015.8:g.20520786C>T | NCBI36 |
| NG_054889.1:g.82184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2565C>T | ENSP00000479802.2:p.Tyr855= | |
| ENST00000617928.5:c.2571C>T MANE Select | ENSP00000481038.1:p.Tyr857= | |
| ENST00000610365.4:c.2571C>T | ENSP00000478779.1:p.Tyr857= | |
| ENST00000617556.4:c.1278C>T | ENSP00000480525.1:p.Tyr426= | |
| ENST00000617928.4:c.2571C>T | ENSP00000481038.1:p.Tyr857= | |
| ENST00000619348.4:n.1718C>T | ||
| NM_001033028.1:c.1278C>T | NP_001028200.1:p.Tyr426= | |
| NM_001287810.1:c.2571C>T | NP_001274739.1:p.Tyr857= | |
| NM_014608.3:c.2571C>T | NP_055423.1:p.Tyr857= | |
| XM_011543873.1:c.2970C>T | XP_011542175.1:p.Tyr990= | |
| XM_011543874.1:c.2970C>T | XP_011542176.1:p.Tyr990= | |
| XM_011543875.1:c.2970C>T | XP_011542177.1:p.Tyr990= | |
| XM_011543876.1:c.2565C>T | XP_011542178.1:p.Tyr855= | |
| NM_001033028.2:c.1278C>T | NP_001028200.1:p.Tyr426= | |
| NM_001287810.3:c.2571C>T | NP_001274739.1:p.Tyr857= | |
| NM_001324119.2:c.2673C>T | NP_001311048.1:p.Tyr891= | |
| NM_001324120.2:c.2571C>T | NP_001311049.1:p.Tyr857= | |
| NM_001324122.2:c.891C>T | NP_001311051.1:p.Tyr297= | |
| NM_001324123.2:c.2571C>T | NP_001311052.1:p.Tyr857= | |
| NM_001324124.2:c.2481C>T | NP_001311053.1:p.Tyr827= | |
| NM_001324125.2:c.2205C>T | NP_001311054.1:p.Tyr735= | |
| NM_001324126.2:c.2469C>T | NP_001311055.1:p.Tyr823= | |
| NM_014608.5:c.2571C>T | NP_055423.1:p.Tyr857= | |
| XM_011543873.3:c.2970C>T | XP_011542175.1:p.Tyr990= | |
| XM_011543874.2:c.2970C>T | XP_011542176.1:p.Tyr990= | |
| XM_011543876.3:c.2667C>T | XP_011542178.2:p.Tyr889= | |
| XM_017022023.2:c.3072C>T | XP_016877512.1:p.Tyr1024= | |
| XM_017022024.2:c.2970C>T | XP_016877513.1:p.Tyr990= | |
| XM_024449876.1:c.2970C>T | XP_024305644.1:p.Tyr990= | |
| XM_024449877.1:c.2571C>T | XP_024305645.1:p.Tyr857= | |
| NM_014608.6:c.2571C>T MANE Select | NP_055423.1:p.Tyr857= | |
| NM_001287810.4:c.2571C>T | NP_001274739.1:p.Tyr857= | |
| NM_001324122.3:c.891C>T | NP_001311051.1:p.Tyr297= | |
| NM_001324123.3:c.2571C>T | NP_001311052.1:p.Tyr857= | |
| NM_001324124.3:c.2481C>T | NP_001311053.1:p.Tyr827= | |
| NM_001324125.3:c.2205C>T | NP_001311054.1:p.Tyr735= | |
| NM_001324126.3:c.2469C>T | NP_001311055.1:p.Tyr823= | |
| NM_001033028.3:c.1278C>T | NP_001028200.1:p.Tyr426= |